Konjenital hiperinsülinemik hipoglisemi tanılı hastalarda klinik ve genetik özellikler ile tedavi sonuçları: tek merkez deneyimi
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Date
2020-10-15
Authors
Erbaş, İbrahim Mert
Çatlı, Gönül
Paketçi, Ahu
Anık, Ahmet
Demir, Korcan
Böber, Ece
Abacı, Ayhan
Journal Title
Journal ISSN
Volume Title
Publisher
Bursa Uludağ Üniversitesi
Abstract
Konjenital hiperinsülinemik hipoglisemi, pankreastan kontrolsüz insülin salınımı sonucu ortaya çıkan nadir bir hastalıktır. Bu çalışmada, kliniğimizde konjenital hiperinsülinemik hipoglisemi tanısı ile takip edilen hastaların klinik ve genetik özellikleri ile prognozlarının değerlendirilmesi amaçlanmıştır. Çalışmaya, 2011–2020 yılları arasında kliniğimizde konjenital hiperinsülinemik hipoglisemi tanısı ile takip edilen olgular dahil edildi. Olguların dosya kayıtlarından, klinik, laboratuvar ve genetik özellikleri, görüntüleme sonuçları, tedavi süreçleri ve prognozları ile ilgili bilgiler elde edildi. Çalışmaya dahil edilen 10 olgunun (altı kız, dört erkek) ortanca tanı yaşı 25 (3-183) gündü. En sık başvuru nedeni konvülziyon (altı olgu) iken, olguların üçü semptomatik hale gelmeden rutin tarama sırasında saptanan hipoglisemi nedeniyle tanı aldı. Yedi hastaya genetik analiz yapıldı. Analiz yapılan genler (ABCC8, KCNJ11, GLUD1, HNF4A) arasında dört hastada ABCC8 geninde varyant saptandı (iki hasta heterozigot, bir hasta homozigot, bir hasta ise bileşik heterozigot). Yedi hastada diazoksite yanıt alınırken, diazoksit tedavisine yanıt alınamayan üç hastanın tedavisi oktreotid olarak değiştirildi. Bu hastalardan birisinde ABCC8 geninde heterozigot, bir diğerinde ise homozigot varyant saptandı. Altı hasta izlemde (ortanca süre 1,5 yıl) spontan remisyona girdi ve bu olgular geçici konjenital hiperinsülinemik hipoglisemi olarak kabul edildi. ABCC8 geninde varyant saptanan dört hastanın üçü geçici hastalık tanısı aldı.
Congenital hyperinsulinemic hypoglycemia is a rare disease caused by uncontrolled release of insulin from the pancreas. In this study, we aimed to evaluate the clinical and genetic characteristics and prognosis of the patients with congenital hyperinsulinemic hypoglycemia. Patients who were followed up in our clinic between 2011-2020 years were included in the study. Clinical, laboratory and genetic information, imaging results, treatment approaches and prognoses were obtained from the medical records. Ten patients (6 girls, 4 boys) included in thestudy [median age; 25 (3-183) days]. While the most common symptom was convulsion (Six patients), 30% of the cases were diagnosed during routine screening. Genetic analysis was performed in seven patients. Among the analyzed genes (ABCC8, KCNJ11, GLUD1, HNF4A), four patients had variants in the ABCC8 gene (two patients heterozygous, one patient homozygous, and one patient compound heterozygous). Seven patients were responsive to diazoxide treatment, but the treatment of three patients who could not respond to diazoxide was changed to octreotide. One of these patients showed a heterozygous, the other one showed a homozygousvariant in the ABCC8 gene. Six patients underwent spontaneous remission during the follow-up (median time; 1.5 years). Three of four patients with variants in the ABCC8 gene were diagnosed as transient disease. In this study, the majority of cases followed with congenital hyperinsulinemic hypoglycemia were diagnosed with hypoglycemic convulsion in the neonatal period and were responsive to diazoxide. The most common variant was detected in the ABCC8 gene.
Congenital hyperinsulinemic hypoglycemia is a rare disease caused by uncontrolled release of insulin from the pancreas. In this study, we aimed to evaluate the clinical and genetic characteristics and prognosis of the patients with congenital hyperinsulinemic hypoglycemia. Patients who were followed up in our clinic between 2011-2020 years were included in the study. Clinical, laboratory and genetic information, imaging results, treatment approaches and prognoses were obtained from the medical records. Ten patients (6 girls, 4 boys) included in thestudy [median age; 25 (3-183) days]. While the most common symptom was convulsion (Six patients), 30% of the cases were diagnosed during routine screening. Genetic analysis was performed in seven patients. Among the analyzed genes (ABCC8, KCNJ11, GLUD1, HNF4A), four patients had variants in the ABCC8 gene (two patients heterozygous, one patient homozygous, and one patient compound heterozygous). Seven patients were responsive to diazoxide treatment, but the treatment of three patients who could not respond to diazoxide was changed to octreotide. One of these patients showed a heterozygous, the other one showed a homozygousvariant in the ABCC8 gene. Six patients underwent spontaneous remission during the follow-up (median time; 1.5 years). Three of four patients with variants in the ABCC8 gene were diagnosed as transient disease. In this study, the majority of cases followed with congenital hyperinsulinemic hypoglycemia were diagnosed with hypoglycemic convulsion in the neonatal period and were responsive to diazoxide. The most common variant was detected in the ABCC8 gene.
Description
Keywords
Diazoksit, Diazoxide, Hiperinsülinizm, Hipoglisemi, Nöroglikopenik semptom, KATP kanalı, Hyperinsulinism, Hypoglycaemia, Neuroglycopenic symptom, KATP channel
Citation
Erbaş, İ. M. vd. (2020). "Konjenital hiperinsülinemik hipoglisemi tanılı hastalarda klinik ve genetik özellikler ile tedavi sonuçları: tek merkez deneyimi". Bursa Uludağ Üniversitesi Güncel Pediatri, 18(3), 317-335.